ClinVar Miner

Submissions for variant NM_000387.6(SLC25A20):c.261C>T (p.Ala87=)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003821442 SCV004626573 likely benign Carnitine acylcarnitine translocase deficiency 2023-03-17 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV004711971 SCV005261371 likely benign not provided criteria provided, single submitter not provided

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